Canonical Allele Identifier: CA2465383241

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150649888T= , CM000685.2:g.150649888T=	GRCh38
NC_000023.10:g.149818361T= , CM000685.1:g.149818361T=	GRCh37
NC_000023.9:g.149569019T=	NCBI36
NG_008199.1:g.86315T= , LRG_839:g.86315T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000252.3:c.1040T= MANE Select	NP_000243.1:p.Leu347=
ENST00000370396.7:c.1040T= MANE Select	ENSP00000359423.3:p.Leu347=
NM_000252.2:c.1040T= , LRG_839t1:c.1040T=	NP_000243.1:p.Leu347=
NM_001376906.1:c.1040T=	NP_001363835.1:p.Leu347=
NM_001376907.1:c.929T=	NP_001363836.1:p.Leu310=
NM_001376908.1:c.1040T=	NP_001363837.1:p.Leu347=
ENST00000306167.11:n.907T=
ENST00000370396.6:c.1040T=	ENSP00000359423.2:p.Leu347=
ENST00000684910.1:c.*573T=	ENSP00000509844.1:n.*573T=
ENST00000685439.1:c.695T=	ENSP00000508454.1:p.Leu232=
ENST00000685944.1:c.1040T=	ENSP00000509266.1:p.Leu347=
ENST00000686212.1:n.642T=
ENST00000687215.1:c.*795T=	ENSP00000509706.1:n.*795T=
ENST00000688152.1:c.*484T=	ENSP00000509360.1:n.*484T=
ENST00000688403.1:c.296T=	ENSP00000508944.1:p.Leu99=
ENST00000689314.1:c.1085T=	ENSP00000510607.1:p.Leu362=
ENST00000689694.1:c.1040T=	ENSP00000508718.1:p.Leu347=
ENST00000689810.1:c.*689T=	ENSP00000510635.1:n.*689T=
ENST00000690282.1:c.296T=	ENSP00000509809.1:p.Leu99=
ENST00000690351.1:c.*692T=	ENSP00000509728.1:n.*692T=
ENST00000691232.1:c.695T=	ENSP00000509675.1:p.Leu232=
ENST00000691482.1:n.2055T=
ENST00000691686.1:c.1040T=	ENSP00000509784.1:p.Leu347=
ENST00000691851.1:c.1040T=	ENSP00000510106.1:p.Leu347=
ENST00000692015.1:c.827T=	ENSP00000510634.1:p.Leu276=
ENST00000692638.1:c.*845T=	ENSP00000509412.1:n.*845T=
ENST00000692852.1:c.851T=	ENSP00000510337.1:p.Leu284=
ENST00000692915.1:c.*1186T=	ENSP00000508547.1:n.*1186T=
XM_005274687.2:c.1040T=	XP_005274744.1:p.Leu347=
XM_011531170.1:c.1106T=	XP_011529472.1:p.Leu369=
XM_011531171.1:c.1085T=	XP_011529473.1:p.Leu362=
XM_011531172.1:c.1085T=	XP_011529474.1:p.Leu362=
XM_011531173.1:c.1040T=	XP_011529475.1:p.Leu347=
XM_011531173.2:c.1040T=	XP_011529475.1:p.Leu347=
XM_017029547.1:c.1085T=	XP_016885036.1:p.Leu362=
XM_017029548.1:c.1085T=	XP_016885037.1:p.Leu362=
XM_017029549.1:c.1040T=	XP_016885038.1:p.Leu347=
XM_017029550.1:c.929T=	XP_016885039.1:p.Leu310=
XM_017029551.2:c.296T=	XP_016885040.1:p.Leu99=